Canonical Allele Identifier: CA118675
Gene: CTSC HGNC NCBI

Linked Data

ClinVar Variation Id: 7290
ClinVar RCV Id: RCV000007713
dbSNP Id: rs587776654

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294509C>T , CM000673.2:g.88294509C>T GRCh38
NC_000011.9:g.88027677C>T , CM000673.1:g.88027677C>T GRCh37
NC_000011.8:g.87667325C>T NCBI36
NG_007952.1:g.48265G>A , LRG_50:g.48265G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000227266.10:c.890-1G>A MANE Select ENSP00000227266.4:n.890-1G>A
ENST00000533897.2:n.5203-1G>A
ENST00000676612.1:c.*697-1G>A ENSP00000504440.1:n.*697-1G>A
ENST00000677208.1:c.*396-1G>A ENSP00000504347.1:n.*396-1G>A
ENST00000677661.1:c.*567-1G>A ENSP00000503323.1:n.*567-1G>A
ENST00000677802.1:c.*567-1G>A ENSP00000504115.1:n.*567-1G>A
ENST00000678395.1:c.*396-1G>A ENSP00000503123.1:n.*396-1G>A
ENST00000678464.1:c.890-34G>A ENSP00000503046.1:n.890-34G>A
ENST00000678506.1:c.851-1G>A ENSP00000503580.1:n.851-1G>A
ENST00000678520.1:c.*541-1G>A ENSP00000503361.1:n.*541-1G>A
ENST00000678554.1:c.889+1624G>A ENSP00000504541.1:n.889+1624G>A
ENST00000678915.1:c.758-1G>A ENSP00000504805.1:n.758-1G>A
ENST00000679224.1:c.527-1G>A ENSP00000504475.1:n.527-1G>A
ENST00000227266.9:c.890-1G>A ENSP00000227266.4:n.890-1G>A
ENST00000533897.1:n.3624-1G>A
NM_001814.4:c.890-1G>A , LRG_50t1:c.890-1G>A NP_001805.3:n.890-1G>A
NM_001814.5:c.890-1G>A NP_001805.3:n.890-1G>A
NM_001814.6:c.890-1G>A MANE Select NP_001805.4:n.890-1G>A